Abstract | BACKGROUND: METHODS: We evaluated the clinical features of a 10-year and 7-month-old Chinese girl with MOPD II. Subsequently, next-generation sequencing and flow cytometry were performed to investigate genetic characteristics and the expression of PCNT protein respectively. RESULTS: The patient presented with short stature, microcephaly, typical craniofacial features, teeth deformity, thrombocytosis, and a delayed bone age (approximately 7 years). No abnormality in growth hormone or insulin-like growth factor 1 was detected. Notably, the patient was found to carry a novel homozygous PCNT mutation (c.6157G>T, p.Glu2053Ter), which was inherited from her healthy heterozygous parents. Meanwhile, significant deficiency of PCNT expression was identified in the patient. CONCLUSION: Our study identified a novel PCNT mutation associated with MOPD II, expanded the mutation spectrum of the PCNT gene and improved our understanding of the molecular basis of MOPD II.
|
Authors | Haifeng Liu, Na Tao, Yan Wang, Yang Yang, Xiaoli He, Yu Zhang, Yuantao Zhou, Xiaoning Liu, Xingxing Feng, Meiyuan Sun, Fang Xu, Yanfang Su, Li Li |
Journal | Molecular genetics & genomic medicine
(Mol Genet Genomic Med)
Vol. 9
Issue 9
Pg. e1761
(09 2021)
ISSN: 2324-9269 [Electronic] United States |
PMID | 34331829
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
|
Copyright | © 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. |
Chemical References |
|
Topics |
- Antigens
(genetics)
- Dwarfism
(genetics, pathology)
- Female
- Fetal Growth Retardation
(genetics, pathology)
- Homozygote
- Humans
- Infant
- Microcephaly
(genetics, pathology)
- Mutation, Missense
- Osteochondrodysplasias
(genetics, pathology)
|